A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9213



Internal ID15500439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16450522..16453038hg38UCSC Ensembl
Outerchr1:16777017..16779533hg19UCSC Ensembl
Outerchr1:16649604..16652120hg18UCSC Ensembl
Outerchr1:16522323..16524839hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382517
hg192517
hg182517
hg172517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15103, nssv12118, nssv13424
SamplesNA18517, NA19144, NA18504
Known GenesNECAP2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9213
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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